Locus for Familial Migrainous Vertigo Disease Maps to Chromosome 5q35

Por Bahmad, Fayez, DePalma, Steven R., Merchant, Saumil N., Bezerra, Roberta L., Oliveira, Carlos A., Seidman, Christine E., Seidman, Jonathan G.
Publicado em 2009

Phenotype-genotype association grid: a convenient method for summarizing multiple association analyses

Por O'Donnell Christopher J, Benjamin Emelia J, DePalma Steven R, Levy Daniel, Parise Helen, Hirschhorn Joel N, Vasan Ramachandran S, Izumo Seigo, Larson Martin G
Publicado em 2006-05-01

Phenotype-genotype association grid: a convenient method for summarizing multiple association analyses

Por Levy, Daniel, DePalma, Steven R, Benjamin, Emelia J, O'Donnell, Christopher J, Parise, Helen, Hirschhorn, Joel N, Vasan, Ramachandran S, Izumo, Seigo, Larson, Martin G
Publicado em 2006

A Nonsense Mutation in MSX1 Causes Witkop Syndrome

Por Jumlongras, Dolrudee, Bei, Marianna, Stimson, Jean M., Wang, Wen-Fang, DePalma, Steven R., Seidman, Christine E., Felbor, Ute, Maas, Richard, Seidman, Jonathan G., Olsen, Bjorn R.
Publicado em 2001

Spectrum of somatic mitochondrial mutations in five cancers

Por Larman, Tatianna C., DePalma, Steven R., Hadjipanayis, Angela G., Protopopov, Alexei, Zhang, Jianhua, Gabriel, Stacey B., Chin, Lynda, Seidman, Christine E., Kucherlapati, Raju, Seidman, J. G.
Publicado em 2012

NKX2-5 Mutations in an Inbred Consanguineous Population: Genetic and Phenotypic Diversity

Por Abou Hassan, Ossama K., Fahed, Akl C., Batrawi, Manal, Arabi, Mariam, Refaat, Marwan M., DePalma, Steven R., Seidman, J. G., Seidman, Christine E., Bitar, Fadi F., Nemer, Georges M.
Publicado no Sci Rep (2015)

A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders

Por Gensure, Robert C., Mäkitie, Outi, Barclay, Catherine, Chan, Catherine, DePalma, Steven R., Bastepe, Murat, Abuzahra, Hilal, Couper, Richard, Mundlos, Stefan, Sillence, David, Ala Kokko, Leena, Seidman, Jonathan G., Cole, William G., Jüppner, Harald
Publicado em 2005

HOXA2 Haploinsufficiency in Dominant Bilateral Microtia and Hearing Loss

Por Brown, Kerry K., Viana, Lucas M., Helwig, Cecilia C., Artunduaga, Maria A., Quintanilla-Dieck, Lourdes, Jarrin, Patricia, Osorno, Gabriel, McDonough, Barbara, DePalma, Steven R., Eavey, Roland D., Seidman, Jonathan G., Seidman, Christine E.
Publicado em 2013

Using Next-generation RNA Sequencing to Examine Ischemic Changes Induced by Cold Blood Cardioplegia on the Human Left Ventricular Myocardium Transcriptome

Por Muehlschlegel, Jochen D., Christodoulou, Danos C., McKean, David, Gorham, Joshua, Mazaika, Erica, Heydarpour, Mahyar, Lee, Grace, DePalma, Steven R., Perry, Tjorvi E., Fox, Amanda F., Shernan, Stanton, Seidman, Christine E., Aranki, Sary F., Seidman, Jon G., Body, Simon C.
Publicado no Anesthesiology (2015)

Genome-Wide Assessment for Genetic Variants Associated with Ventricular Dysfunction after Primary Coronary Artery Bypass Graft Surgery

Por Fox, Amanda A., Pretorius, Mias, Liu, Kuang-Yu, Collard, Charles D., Perry, Tjorvi E., Shernan, Stanton K., De Jager, Philip L., Hafler, David A., Herman, Daniel S., DePalma, Steven R., Roden, Dan M., Muehlschlegel, Jochen D., Donahue, Brian S., Darbar, Dawood, Seidman, J. G., Body, Simon C., Seidman, Christine E.
Publicado em 2011

Loss of RNA expression and allele-specific expression associated with congenital heart disease

Por McKean, David M., Homsy, Jason, Wakimoto, Hiroko, Patel, Neil, Gorham, Joshua, DePalma, Steven R., Ware, James S., Zaidi, Samir, Ma, Wenji, Patel, Nihir, Lifton, Richard P., Chung, Wendy K., Kim, Richard, Shen, Yufeng, Brueckner, Martina, Goldmuntz, Elizabeth, Sharp, Andrew J., Seidman, Christine E., Gelb, Bruce D., Seidman, J. G.
Publicado no Nat Commun (2016)

Increased Burden of Cardiovascular Disease in Carriers of APOL1 Genetic Variants

Por Ito, Kaoru, Bick, Alexander G., Flannick, Jason, Friedman, David J., Genovese, Giulio, Parfenov, Michael G., DePalma, Steven R., Gupta, Namrata, Gabriel, Stacey B., Taylor, Herman A., Fox, Ervin R., Newton-Cheh, Christopher, Kathiresan, Sekar, Hirschhorn, Joel N., Altshuler, David M., Pollak, Martin R., Wilson, James G., Seidman, J. G., Seidman, Christine
Publicado em 2013

THSD1 Mutation in the Pathogenesis of Intracranial Aneurysm and Subarachnoid Hemorrhage

Por Santiago-Sim, Teresa, Fang, Xiaoqian, Hennessy, Morgan L., Nalbach, Stephen V., DePalma, Steven R., Lee, Ming Sum, Greenway, Steven C., McDonough, Barbara, Hergenroeder, Georgene W., Patek, Kyla J., Colosimo, Sarah M., Qualmann, Krista J., Hagan, John P., Milewicz, Dianna M., MacRae, Calum A., Dymecki, Susan M., Seidman, Christine E., Seidman, J.G., Kim, Dong H.
Publicado no Stroke (2016)

Burden of Rare Sarcomere Gene Variants in the Framingham and Jackson Heart Study Cohorts

Por Bick, Alexander G., Flannick, Jason, Ito, Kaoru, Cheng, Susan, Vasan, Ramachandran S., Parfenov, Michael G., Herman, Daniel S., DePalma, Steven R., Gupta, Namrata, Gabriel, Stacey B., Funke, Birgit H., Rehm, Heidi L., Benjamin, Emelia J., Aragam, Jayashri, Taylor, Herman A., Fox, Ervin R., Newton-Cheh, Christopher, Kathiresan, Sekar, O’Donnell, Christopher J., Wilson, James G., Altshuler, David M., Hirschhorn, Joel N., Seidman, J.G., Seidman, Christine
Publicado em 2012

Increased Frequency of De Novo Copy Number Variations in Congenital Heart Disease by Integrative Analysis of SNP Array and Exome Sequence Data

Por Glessner, Joseph T., Bick, Alexander G., Ito, Kaoru, Homsy, Jason, Rodriguez-Murillo, Laura, Fromer, Menachem, Mazaika, Erica, Vardarajan, Badri, Italia, Michael, Leipzig, Jeremy, DePalma, Steven R., Golhar, Ryan, Sanders, Stephan J., Yamrom, Boris, Ronemus, Michael, Iossifov, Ivan, Willsey, A. Jeremy, State, Matthew W., Kaltman, Jonathan R., White, Peter S., Shen, Yufeng, Warburton, Dorothy, Brueckner, Martina, Seidman, Christine, Goldmuntz, Elizabeth, Gelb, Bruce D., Lifton, Richard, Seidman, Jonathan, Hakonarson, Hakon, Chung, Wendy K.
Publicado em 2014

De Novo Copy Number Variants Identify New Genes and Loci in Isolated, Sporadic Tetralogy of Fallot

Por Greenway, Steven C, Pereira, Alexandre C, Lin, Jennifer C, DePalma, Steven R, Israel, Samuel J, Mesquita, Sonia M, Ergul, Emel, Conta, Jessie R, Korn, Joshua M, McCarroll, Steven A, Gorham, Joshua M, Gabriel, Stacey, Altshuler, David A, de Lourdes Quintanilla-Dieck, Maria, Artunduaga, Maria Alexandra, Eavey, Roland D, Plenge, Robert M, Shadick, Nancy A, Weinblatt, Michael E, De Jager, Philip L, Hafler, David A, Breitbart, Roger E, Seidman, J G, Seidman, Christine E
Publicado em 2009

Truncations of Titin Causing Dilated Cardiomyopathy

Por Herman, Daniel S., Lam, Lien, Taylor, Matthew R.G., Wang, Libin, Teekakirikul, Polakit, Christodoulou, Danos, Conner, Lauren, DePalma, Steven R., McDonough, Barbara, Sparks, Elizabeth, Teodorescu, Debbie Lin, Cirino, Allison L., Banner, Nicholas R., Pennell, Dudley J., Graw, Sharon, Merlo, Marco, Di Lenarda, Andrea, Sinagra, Gianfranco, Bos, J. Martijn, Ackerman, Michael J., Mitchell, Richard N., Murry, Charles E., Lakdawala, Neal K., Ho, Carolyn Y., Barton, Paul J.R., Cook, Stuart A., Mestroni, Luisa, Seidman, J.G., Seidman, Christine E.
Publicado em 2012

De novo mutations in Congenital Heart Disease with Neurodevelopmental and Other Birth Defects

Por Homsy, Jason, Zaidi, Samir, Shen, Yufeng, Ware, James S., Samocha, Kaitlin E., Karczewski, Konrad J., DePalma, Steven R., McKean, David, Wakimoto, Hiroko, Gorham, Josh, Jin, Sheng Chih, Deanfield, John, Giardini, Alessandro, Porter, George A., Kim, Richard, Bilguvar, Kaya, Lopez, Francesc, Tikhonova, Irina, Mane, Shrikant, Romano-Adesman, Angela, Qi, Hongjian, Vardarajan, Badri, Ma, Lijiang, Daly, Mark, Roberts, Amy E., Russell, Mark W., Mital, Seema, Newburger, Jane W., Gaynor, J. William, Breitbart, Roger E., Iossifov, Ivan, Ronemus, Michael, Sanders, Stephan J., Kaltman, Jonathan R., Seidman, Jonathan G., Brueckner, Martina, Gelb, Bruce D., Goldmuntz, Elizabeth, Lifton, Richard P., Seidman, Christine E., Chung, Wendy K.
Publicado no Science (2015)